Concepedia

Steve Jeffery

SJ

Statistics

Publications

76

Citations

9.4K

H-Index

40

Active since

1979

Affiliations

St George's, University of London(Current)

St George's Hospital

St Thomas' Hospital

King's College London

University College London

Steve Jeffery is an author at St George's, University of London specializing in genetics, molecular genetics, and medical genetics.

Publications per year

1979–2022

76

Publications

76

Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome

Marco Tartaglia, Ernest L. Mehler, Rosalie Goldberg et al. · Nature Genetics · 2001 · 1.7K citations

, , +11

Identification of a deletion in plakoglobin in arrhythmogenic right ventricular cardiomyopathy with palmoplantar keratoderma and woolly hair (Naxos disease)

Godfrina McKoy, Nikos Protonotarios, Andrew H. Crosby et al. · The Lancet · 2000 · 1.1K citations

, , +15

PTPN11 Mutations in Noonan Syndrome: Molecular Spectrum, Genotype-Phenotype Correlation, and Phenotypic Heterogeneity

Marco Tartaglia, Kamini Kalidas, Adam Shaw et al. · The American Journal of Human Genetics · 2002 · 797 citations · Full text

, , +9

Mutations in GATA2 cause primary lymphedema associated with a predisposition to acute myeloid leukemia (Emberger syndrome)

Pia Østergaard, Michael A. Simpson, Fiona Connell et al. · Nature Genetics · 2011 · 503 citations

, , +10

Sudden arrhythmic death syndrome: familial evaluation identifies inheritable heart disease in the majority of families

Elijah R. Behr, Chrysoula Dalageorgou, Michael Christiansen et al. · European Heart Journal · 2008 · 420 citations · Full text

, , +14

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